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Genetic risk score devised for osteoporosis patients

Tuesday June 9th 2020

Genetic researchers have discovered how to predict which individuals with osteoporosis are likely to have fractures.

The research, which was presented at the 53rd annual conference of the European Society of Human Genetics, could help to improve the health of older people.

Dr Carolina Medina-Gomez, of the Laboratory of Human Genetics, Erasmus MC, Rotterdam, The Netherlands, and team from the USA, Norway and The Netherlands, developed a genetic risk score to help identify individuals who are likely to fracture early.

Some of those individuals had normal bone mass density, so would not be deemed as osteoporotic by the usual scans, she said.

The researchers studied the fracture history of 11,351 participants in the Rotterdam Study, which began in 1990, with up to 20 years of follow up.

The genetic risk score (GRS) was derived from the largest genome-wide association study (GWAS) on BMD to date, carried out in data from the UK BioBank.

People with a genetic predisposition to early fracture could benefit from targeted interventions, to help increase bone mass density in adulthood and to prevent falls, making it beneficial to be able to identify these patients at an early stage.

Dr Medina-Gomez said: “The current method of classifying patients based on bone density scans is effective, but we are trying to help those individuals with apparently normal bone mass density who suffer fractures, and it is these people the bone research community is trying to identify so that we can offer them the right intervention and treatment.

“We will still need to be able to fine tune which PRS weighting system will allow us a more precise identification of these people, and to assess the added value of using a PRS as compared to a Fracture Risk Assessment Tool (FRAX) assessment as used at present by clinicians.

“If the PRS can help clinicians identify the group of individuals who would benefit from medication, for example, it would be an extraordinary achievement.”

Widening the research to include non-European populations will be an important step forward.

Professor Joris Veltman, dean of the Biosciences Institute at Newcastle University, Newcastle upon Tyne, UK, and also chair of the ESHG conference, said: “Genetic information often tells us whether a person is at increased risk to develop a disorder or not. Unfortunately, it mostly does not tell us when these disorders will develop, and that minimises the use of genetics for practical medical decision-making.

“In this study, the authors have pioneered the use of a genetic risk score to identify people at risk of developing bone fractures early in life. If replicated and fine-tuned, this would provide relevant information to a group of people and their health care providers.”

Tags: Elderly Health | Europe | Genetics | North America | Rheumatology

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